A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538188



Internal ID15501954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:179317194..179440207hg38UCSC Ensembl
Innerchr4:180238348..180361361hg19UCSC Ensembl
Innerchr4:180475342..180598355hg18UCSC Ensembl
Innerchr4:180613497..180736510hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38123014
hg19123014
hg18123014
hg17123014
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461848
Supporting Variants
Samples1780854023_A
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv538188
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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